|
1
|
(HPO:0000020)
|
Urinary incontinence |
|
|
|
|
75 / 7739
|
|
2
|
(HPO:0000135)
|
Hypogonadism |
|
|
|
|
89 / 7739
|
|
3
|
(HPO:0000365)
|
Hearing impairment |
|
|
|
|
539 / 7739
|
|
4
|
(HPO:0000572)
|
Visual loss |
|
|
|
|
272 / 7739
|
|
5
|
(HPO:0000618)
|
Blindness |
|
|
|
|
124 / 7739
|
|
6
|
(HPO:0000709)
|
Psychosis |
|
|
|
|
61 / 7739
|
|
7
|
(HPO:0000726)
|
Dementia |
|
|
|
|
131 / 7739
|
|
8
|
(HPO:0000802)
|
Impotence |
|
|
|
|
20 / 7739
|
|
9
|
(HPO:0000924)
|
Abnormality of the skeletal system |
|
|
|
|
114 / 7739
|
|
10
|
(HPO:0000953)
|
Hyperpigmentation of the skin |
|
|
|
|
75 / 7739
|
|
11
|
(HPO:0001250)
|
Seizures |
|
|
|
|
1245 / 7739
|
|
12
|
(HPO:0001258)
|
Spastic paraplegia |
|
|
|
|
97 / 7739
|
|
13
|
(HPO:0001271)
|
Polyneuropathy |
|
|
|
|
56 / 7739
|
|
14
|
(HPO:0001283)
|
Bulbar palsy |
|
|
|
|
31 / 7739
|
|
15
|
(HPO:0001350)
|
Slurred speech |
|
|
|
|
16 / 7739
|
|
16
|
(HPO:0002070)
|
Limb ataxia |
|
|
|
|
41 / 7739
|
|
17
|
(HPO:0002078)
|
Truncal ataxia |
|
|
|
|
41 / 7739
|
|
18
|
(HPO:0002180)
|
Neurodegeneration |
|
|
|
|
31 / 7739
|
|
19
|
(HPO:0001251)
|
Ataxia |
|
|
|
|
413 / 7739
|
|
20
|
(HPO:0002311)
|
Incoordination |
|
|
|
|
84 / 7739
|
|
21
|
(HPO:0002371)
|
Loss of speech |
|
|
|
|
15 / 7739
|
|
22
|
(HPO:0002385)
|
Paraparesis |
|
|
|
|
12 / 7739
|
|
23
|
(HPO:0002500)
|
Abnormality of the cerebral white matter |
|
|
|
|
73 / 7739
|
|
24
|
(HPO:0002607)
|
Bowel incontinence |
|
|
|
|
33 / 7739
|
|
25
|
(HPO:0002839)
|
Urinary bladder sphincter dysfunction |
|
|
|
|
34 / 7739
|
|
26
|
(HPO:0003455)
|
Elevated long chain fatty acids |
|
|
|
|
8 / 7739
|
|
27
|
(HPO:0007018)
|
Attention deficit hyperactivity disorder |
|
|
|
|
56 / 7739
|
|
28
|
(HPO:0000846)
|
Adrenal insufficiency |
|
|
|
|
24 / 7739
|
|
29
|
(HPO:0008207)
|
Primary adrenal insufficiency |
|
|
|
|
26 / 7739
|
|
30
|
(HPO:0002344)
|
Progressive neurologic deterioration |
|
|
|
|
27 / 7739
|
|
31
|
(HPO:0001268)
|
Mental deterioration |
|
|
|
|
88 / 7739
|
|
32
|
(HPO:0001257)
|
Spasticity |
|
|
|
|
251 / 7739
|
|
33
|
(OMIM)
|
Cerebral demyelination and inflammation |
|
|
|
|
2 / 7739
|
|
34
|
(HPO:0003401)
|
Paresthesia |
|
|
|
|
42 / 7739
|
|
35
|
(HPO:0003474)
|
Sensory impairment |
|
|
|
|
54 / 7739
|
|
36
|
(OMIM)
|
Distal axonopathy (adrenomyeloneuropathy) |
|
|
|
|
2 / 7739
|
|
37
|
(HPO:0000708)
|
Behavioral abnormality |
|
|
|
|
212 / 7739
|
|
38
|
(OMIM)
|
[DEL]Autistic features |
|
|
|
|
43 / 7739
|
|
39
|
(OMIM)
|
Systemic accumulation of very long chain fatty acids (VLCFA) |
|
|
|
|
2 / 7739
|
|
40
|
(HPO:0001419)
|
X-linked recessive inheritance |
|
|
|
|
189 / 7739
|
|
41
|
(HPO:0003676)
|
Progressive disorder |
|
|
|
|
148 / 7739
|